ChromosOmics - Database

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                                                  CHROMOSOME #1 -                                                 
UNCLEAR
 Specific PATIENTINFORMATION for sSMC(1)

Cases without clinical findings
Similar imbalances – no sSMC
Cases with clinical findings
Similar imbalances – no sSMC
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases with neocentromeres
Similar imbalances
Tumor
DISCLAIMER
In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!



UPD (uniparental disomy) cases: UPD(1)mat UPD(1)pat UPD(1)mat or pat

Cases with unclear clinical correlation (U)


case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding result
grade of mosaicism

final result of the sSMC
test
methods

clinical symptoms

Reference
01-
U-
1
female/
13y
PBL
de novo
47,XX,del(18)(q22),+mar[25%]/
46,XX,del(18)(q22)[75%]
r(1)(:p?11.2q?21.1:)* radioactive ISH; satellite II probe for chr. 1
see below {6} case 1
Normal pregnancy and delivery; At age of 13: microcephaly, short stature, moderately severe MR, myopia, DYS, congenital nystagmus spina bifida occulta of S1; in the past: bilateral vesicoreteric reflux, chronic serous otis media.
01-
U-
2
see mult 2-11
01-
U-
3
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(1) centromeric probes n.a. {46} 1 case
01-
U-
4
female/
prenatal
AF de novo 47,XX,+mar[46]/
46,XX[8]
r(1)(:p11q11:) all centromeric probes, telomeric probes Amniocentesis due to a positive screen on expanded AFP for trisomy 21 with an estimated risk of 1: 42; ultrasound at 22 4/7 weeks gestation was normal. The patient was lost to follow-up. {35} case 8
01-
U-
5
female/
prenatal
CH de novo 48,XX,+mar,+mar[2]/
47,XX,+mar[28]/
46,XX[20] mar only in long term culture of CH; not in AF not in PBL
min(1)(:p11q12:) 3 variants in size of 1q12 cenM;
subcenM;
UPD test
see below {0} provided from Germany
clinically abnormal in ultrasound; plexus choroideus cysts, hypoplastic cerebellum, conspicuous finding for heart; marker only in CV, not in amniocytes and not in blood, postnatally. Ultrasound-abnormalities were detected, postnatal suspected to suffer from Aicardi-syndrome. Child deceased a few years after birth
01-
U-
6
male/
prenatal
AF de novo 47,XY,+mar[8]/
46,XY[22]
r(1)(::p21q21::) cep probes; SKY, midi prenatal diagnosis due to advanced maternal age. No ultrasound abnormalities, TOP in week 23 of gestation. In autopsy no abnormalities detected. {48}
01-
U-
7
female/
prenatal
AF de novo 47,XX,+mar[7]/
46,XX[21]
r(1)(::p11.1q21.1::) centromeric probes; RP5-940; AL157950; RP11-35B4; AL359093);
UPD test
n.a. {40} case 34
01-
U-
8
see mult 2-25
01-
U-
9
female/
prenatal
AF de novo 47,XX,+mar[8]/
46,XX[15]
min(1)(:p11.1q21.1:)[19]/
min(1)(:p11.1
q21.1:)x2[3]
cenM; subcenM; UPD test advanced maternal age, no US abnormalities, TOP {0} provided from Germany
01-
U-
10
see 01-Uu-1
01-
U-
11
male/
prenatal
AF de novo 47,XY,+mar[?%]/
46,XY[?%]
mar(1) SKY n.a. {75} case F0414116
01-
U-
12
female/
7y
PBL de novo 47,XX,+mar[44]/
46,XX[256]
mar(1) SNP-array normal at birth; then feeding problems, delayed motor milestones and speech development {77}
01-
U-
13
see 01-Ud-1
01-
U-
14
female/
postnatal
PBL de novo 47,XX,+mar[?]/
46,XX[?]
min(1)(:p12?q10:)
at least 1.14 Mb in 1p12 in euchromatin
pericentric BAC set n.a. {82} case 1
01-
U-
15
see 01-Ud-2
01-
U-
16
female/
prenatal
AF n.a. 47,XX,+mar[6]/
46,XX[15]
min(1)(:p11.1q11:) cenM
subcenM
advanced maternal age; lost during follow-up {0}
01-
U-
17
female/
prenatal
AF de novo 47,XX,+mar[60]/
46,XX[12]
min(1)(:p11.1q12:) cenM
subcenM
advanced maternal age
{0} provided from Serbia

Cases with complex sSMC (Uc)

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding result
grade of mosaicism

final result of the sSMC
test
methods

clinical symptoms
Reference
01-
Uc-
1

-


-


-


-


-

-

-


-


Cases with discontinous sSMC (Ud)

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding result
grade of mosaicism

final result of the sSMC
test
methods

clinical symptoms
Reference

01-
Ud-
1

female/
prenatal
AF n.a. 47,XX,+mar.ish add(1)(p or q)[47]/
48,XX,+2mar.ish (wcp1,D1Z1)x2[13]/
46,XX[40]
see below FISH; aCGH Microcephaly
R>1/41
increased N>
6.5mm
{79} case 1
discontinous mar(1)x2
1.66Mb duplication arr 1p33p34.1 (45,566,167-47,233,827)x3,
355kb duplication arr 1p31.1(77,819,029-78,174,408)x3
7.78Mb duplication arr 1p22.2p31.1 (81,784,564-89,570,359)x3
528kb duplication arr 1p13.3 (110,488,176-111,169,53)x3
5.96Mb duplication arr 1p12p13.2 (114,488,799-120,449,334)x3
01-
Ud-
2
female/
4.3y
PBL de novo
47,XX,+mar[>95%/ 47,XX,+?r[~2%]
46,XX[>3%]
min(1)(:p10q12:
:q12
q21.2: :q21.1~21.2q21.1:)*
YACs and BACs as described in {34}; midi see below
{34}
Born at term after normal pregnancy; birth w and l 10th centile, OFC >20th centile; dysmorphic face (asymmetry, hypertelorism, low-set ears, micrognathia, broad nasal bridge, short philtrum, dimple between lower lip and chin, high palate, prominent occiput); simian crease; sacral dimple; at 9 m DD of at least 2 months but no growth retardation; psychomotor developmental delay of ~1y; at 5.5y her language abilities had improved, she was able to form whole sentences, but she had difficulties to concentrate
01-
Ud-
3
male/
8y
PBL de novo 47,XY,+mar[30%]/
46,XY[70%]
r(1)(::q11p11.2::1?::) different FISH-probes:
D1Z1; BAC923C6 in 1p12
, RR6 in 1q12; midi-probe of case D{8}
minor dysmorphic features, moderately intelligent at age of 12y {8} case A

Cases with UPD (Uu)


case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding result
grade of mosaicism

final result of the sSMC
test
methods

clinical symptoms
Reference
01-
Uu-
1
female/
6y
PBL de novo 47,XX,+mar[14]/
46,XX[26]
r(1)(::p21.1q12::)
mat UPD 1
midi; telomeric probes; UPD test see below {22; 80}
Born at term after uneventful pregnancy; birth weight: 2,500g; length: 49cm; OFC: ?; at 6y: mental retardation; height: normal; weight normal; HC 44cm (<3rd centile); dysmorphic face (additionally temporal narrowing, downward slanting palpebral fissures, long eyelashes, high palate, pointed chin, low set, dysplastic ears); hip dysplasia, tapering fingers with clinodactyly of fingers 2, 4, 5.
01-
Uu-
2
n.a. PBL n.a. n.a. mar(1)
acc. to aCGH most likely heterochromatic or low mosaic
also (partial) (i)UPD 1
aCGH most likely dymorphic and MR {84} 1 case
01-
Uu-
3
male/
postnatal
PBL de novo 47,XY,+mar[20]/
46,XY[80]
min(1) (:p21.1→p21.1)
aCGH: arr[GRCh37] 105,427,063- 121,330,906
mat hetero/
isodisomy at 1p36.33p34.3, 1p34.3p12 and 1q21.3q25.3
aCGH DD; micocephaly {89} case sSMC1
01-
Uu-
4
female/
prenatal
AF de novo 47,XX,+mar[53]/
46,XX[22]
min(1)(:p13.2q1?1:) aCGH: arr[GRCh37] 115796490-121184898 aCGH sonography normal, TOP
{90} case 1; {92} case 7